Frontiers in Genetics | Human and Medical Genomics

Brief Research Report

Published on 04 Jan 2023

siMS score- method for quantification of metabolic syndrome, confirms co-founding factors of metabolic syndrome

in Human and Medical Genomics

V. Dimitrijevic-Sreckovic
H. Petrovic
D. Dobrosavljevic
E. Colak
N. Ivanovic
D. Gostiljac
S. Ilic
D. Nikolic
J. Gacic
I. Soldatovic

Frontiers in Genetics

doi 10.3389/fgene.2022.1041383

3,354 views
5 citations

Review

Published on 04 Jan 2023

Single-cell omics: A new direction for functional genetic research in human diseases and animal models

in Human and Medical Genomics

Siyuan Kong
Rongrong Li
Yunhan Tian
Yaqiu Zhang
Yuhui Lu
Qiaoer Ou
Peiwen Gao
Kui Li
Yubo Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.1100016

7,755 views
19 citations

Perspective

Published on 15 Dec 2022

Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

in Human and Medical Genomics

Giovanna Câmara Giudicelli
Celia Mariana Barbosa De Souza
Francisco Veríssimo Veronese
Lygia V. Pereira
Tábita Hünemeier
Fernanda Sales Luiz Vianna

Frontiers in Genetics

doi 10.3389/fgene.2022.1016341

2,933 views
3 citations

Case Report

Published on 09 Dec 2022

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

in Human and Medical Genomics

Qingming Wang
Shuangxi Cheng
Youqing Fu
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2022.1040124

3,244 views
5 citations

Original Research

Published on 05 Dec 2022

Diagnostic signature, subtype classification, and immune infiltration of key m6A regulators in osteomyelitis patients

in Human and Medical Genomics

Xiangwen Shi
Haonan Ni
Yipeng Wu
Minzheng Guo
Bin Wang
Yue Zhang
Bihuan Zhang
Yongqing Xu

Frontiers in Genetics

doi 10.3389/fgene.2022.1044264

2,641 views
8 citations

Original Research

Published on 05 Dec 2022

Inflammation-related pathways involved in damaged articular cartilage of rats exposed to T-2 toxin based on RNA-sequencing analysis

in Human and Medical Genomics

Longyan Shi
Qiuliang Liu
Heying Yang
Qi Wang
Jiaxiang Wang
Yingzhong Fan

Frontiers in Genetics

doi 10.3389/fgene.2022.1079739

2,768 views
8 citations

Original Research

Published on 01 Dec 2022

Screening and functional analysis of the differential peptides from the placenta of patients with healthy pregnancy and preeclampsia using placental peptidome

in Human and Medical Genomics

Tingting Chen
Zhongxiao Zhang
Qin Lu
Jun Ma

Frontiers in Genetics

doi 10.3389/fgene.2022.1014836

2,057 views
1 citation

Editorial

Published on 01 Dec 2022

Editorial: Genome-wide association studies of COVID-19 among diverse human populations

in Human and Medical Genomics

Zhong-Shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2022.1088026

2,076 views
1 citation

Original Research

Published on 30 Nov 2022

Targeted screening of genetic associations with COVID-19 susceptibility and severity

in Human and Medical Genomics

Ping Li
Yuehua Ke
Wenlong Shen
Shu Shi
Yahao Wang
Kailin Lin
Xinjie Guo
Changjun Wang
Yan Zhang
Zhihu Zhao

Frontiers in Genetics

doi 10.3389/fgene.2022.1073880

3,853 views
9 citations

Original Research

Published on 29 Nov 2022

The role of angiotensin I converting enzyme insertion/deletion polymorphism in the severity and outcomes of COVID-19 patients

in Human and Medical Genomics

Mitra Rezaei
Hadiseh Mohammadpour
Mahya Eftekhari
Mihan Pourabdollah
Farinaz Nasr Azadani
Payam Tabarsi
Majid Marjani
Seyed Ali Ziai

Frontiers in Genetics

doi 10.3389/fgene.2022.1035796

1,773 views
2 citations

Original Research

Published on 28 Nov 2022

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

in Human and Medical Genomics

Jianrong Zhou
Yueheng Wu
Xiaoli Xu
Yong Zhang
Xiong Zhang
Haisheng Chen
Jian Zhuang
Jimei Chen
Yun Teng

Frontiers in Genetics

doi 10.3389/fgene.2022.1059640

2,955 views
5 citations

Case Report

Published on 25 Nov 2022

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

in Human and Medical Genomics

Xiaojing He
Qingya Ma
Qiaoli Zhang
Xutao Hong
Ming Qi
Yongkai Li
Xiaodong Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1038997

2,718 views
2 citations

Original Research

Published on 24 Nov 2022

Epigenomic signatures associated with spontaneous and replication stress-induced DNA double strand breaks

in Human and Medical Genomics

Sravan Kodali
Silvia Meyer-Nava
Stephen Landry
Arijita Chakraborty
Juan Carlos Rivera-Mulia
Wenyi Feng

Frontiers in Genetics

doi 10.3389/fgene.2022.907547

3,390 views
2 citations

Review

Published on 24 Nov 2022

Genes in pediatric pulmonary arterial hypertension and the most promising BMPR2 gene therapy

in Human and Medical Genomics

Lingling Dai
Lizhong Du

Frontiers in Genetics

doi 10.3389/fgene.2022.961848

4,695 views
4 citations

Original Research

Published on 24 Nov 2022

Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population

in Human and Medical Genomics

Mi Yeong Hwang
Nak-Hyeon Choi
Hong Hee Won
Bong-Jo Kim
Young Jin Kim

Frontiers in Genetics

doi 10.3389/fgene.2022.1008646

3,809 views
10 citations

Original Research

Published on 22 Nov 2022

Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses

in Human and Medical Genomics

Jing Yang
Jing Xu
Luting Zhang
Yingting Li
Min Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.974357

2,726 views
5 citations

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Articles

siMS score- method for quantification of metabolic syndrome, confirms co-founding factors of metabolic syndrome

Single-cell omics: A new direction for functional genetic research in human diseases and animal models

Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

Diagnostic signature, subtype classification, and immune infiltration of key m6A regulators in osteomyelitis patients

Inflammation-related pathways involved in damaged articular cartilage of rats exposed to T-2 toxin based on RNA-sequencing analysis

Screening and functional analysis of the differential peptides from the placenta of patients with healthy pregnancy and preeclampsia using placental peptidome

Editorial: Genome-wide association studies of COVID-19 among diverse human populations

Targeted screening of genetic associations with COVID-19 susceptibility and severity

The role of angiotensin I converting enzyme insertion/deletion polymorphism in the severity and outcomes of COVID-19 patients

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Epigenomic signatures associated with spontaneous and replication stress-induced DNA double strand breaks

Genes in pediatric pulmonary arterial hypertension and the most promising BMPR2 gene therapy

Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population

Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses